RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

PhenomeR

SciNetS

CFB

View ALL

7 unique mutation(s) annotated from 3 PubMed(s)

Sl.No	Mutation type	Genomic level change	CDS level change	RNA level change	Protein level change	Mutation effects	Expt. name	PubMed	Mutation viewer
1	Substitution	g.1365C>T	c.497C>T	-	p.Ser166Pro	Missense defects	Direct sequencing	Maga TK et al., 2010	Click here
2	Substitution	g.1476G>A	c.608G>A	-	p.Arg203Gln	Missense defects	Direct sequencing	Maga TK et al., 2010	Click here
3	Substitution	g.1812A>C	c.724A>C	-	p.Ile242Leu	Missense defects	Direct sequencing	Maga TK et al., 2010	Click here
4	Substitution	g.2047C>G	c.858C>G	-	p.Phe286Leu	Missense defects	Direct sequencing	Goicoechea de Jorge E et al., 2007	Click here
5	Substitution	g.2448A>G	c.967A>G	-	p.Lys323Glu	Missense defects	Direct sequencing	Goicoechea de Jorge E et al., 2007	Click here
6	Substitution	g.2448A>C	c.967A>C	-	p.Lys323Gln	Missense defects	Direct sequencing	Maga TK et al., 2010	Click here
7	Substitution	g.4382A>G	c.1598A>G	-	p.Lys533Arg	Missense defects	Direct sequencing, PCR based assay	Tawadrous H et al., 2010	Click here
8	Substitution	g.4382A>G	c.1598A>G	-	p.Lys533Arg	Missense defects	Direct sequencing	Maga TK et al., 2010	Click here

  Unique visitors: 21239
  (since May 2009)
  Users online: 2

This is a joint Project between RIKEN, Japan and Institute of Bioinformatics, India.

Comments/Help Disclaimer